Variant | Gene | N. diseases v | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 0.925 | 0.080 | 8 | 100800465 | intergenic variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
2 | 0.925 | 0.080 | 8 | 100800928 | intergenic variant | A/G | snv | 0.13 | 0.810 | 1.000 | 2 | 2012 | 2014 | ||||
|
32 | 0.641 | 0.520 | 10 | 100975021 | mature miRNA variant | C/G | snv | 0.27 | 0.27 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
24 | 0.672 | 0.360 | 10 | 102837395 | 5 prime UTR variant | A/G;T | snv | 0.40; 8.1E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.080 | 1 | 115027847 | upstream gene variant | G/A | snv | 0.39 | 0.010 | < 0.001 | 1 | 2014 | 2014 | ||||
|
2 | 0.925 | 0.080 | 1 | 115029744 | upstream gene variant | A/G | snv | 0.42 | 0.010 | < 0.001 | 1 | 2014 | 2014 | ||||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.010 | < 0.001 | 1 | 2016 | 2016 | |||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.020 | 1.000 | 2 | 2012 | 2016 | |||
|
2 | 0.925 | 0.080 | X | 119243160 | missense variant | A/G | snv | 1.1E-03 | 1.2E-03 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
2 | 0.925 | 0.080 | X | 119243222 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
2 | 0.925 | 0.080 | 5 | 119536489 | missense variant | C/T | snv | 7.0E-03 | 2.8E-03 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
8 | 0.790 | 0.360 | 3 | 12159406 | intron variant | C/T | snv | 0.31 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.080 | 9 | 124500191 | missense variant | C/T | snv | 3.3E-05 | 2.8E-05 | 0.010 | < 0.001 | 1 | 2002 | 2002 | |||
|
3 | 0.925 | 0.080 | 5 | 129721066 | intron variant | G/T | snv | 0.94 | 0.710 | 1.000 | 2 | 2009 | 2013 | ||||
|
15 | 0.742 | 0.320 | 12 | 130876696 | 3 prime UTR variant | C/T | snv | 0.33 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
3 | 0.882 | 0.080 | 5 | 132862308 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
2 | 0.925 | 0.080 | 5 | 132862366 | synonymous variant | T/C;G | snv | 8.0E-06; 1.6E-05 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
3 | 0.882 | 0.080 | 5 | 132862408 | synonymous variant | C/T | snv | 0.14 | 0.17 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
2 | 0.925 | 0.080 | 5 | 132862507 | synonymous variant | G/A | snv | 0.52 | 0.50 | 0.020 | 1.000 | 2 | 2007 | 2015 | |||
|
2 | 0.925 | 0.080 | 5 | 132862595 | intron variant | C/G | snv | 0.83 | 0.89 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
2 | 0.925 | 0.080 | 5 | 132864335 | missense variant | T/G | snv | 2.0E-04 | 1.4E-05 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
3 | 0.882 | 0.080 | 5 | 132864365 | missense variant | C/A | snv | 1.8E-03 | 5.3E-04 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
5 | 0.827 | 0.160 | 8 | 132971813 | missense variant | C/T | snv | 0.31 | 0.37 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
3 | 0.882 | 0.120 | 9 | 133635081 | upstream gene variant | C/T | snv | 0.31 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
4 | 0.851 | 0.240 | 3 | 138946163 | missense variant | C/T | snv | 4.5E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 |